22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

European Journal of Medical Genetics

Volumn 53, Issue 2, 2010, Pages 61-65

  Lundin, Johanna ^a,b   Söderhäll, Cilla ^a   Lundén, Lina ^a   Hammarsjö, Anna ^b   White, Iréne ^b   Schoumans, Jacqueline ^a,b   Läckgren, Göran ^c   Kockum, Christina Clementson ^d   Nordenskjöld, Agneta ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

^d LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BLADDER EXSTROPHY; CHROMOSOME; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; SWEDEN;

ADOLESCENT; ADULT; BLADDER EXSTROPHY; CHROMOSOMES; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DUPLICATION; HEARING LOSS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOLECULAR PROBE TECHNIQUES; PHENOTYPE; SWEDEN; SYNDROME;

EID: 77950627751     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.11.004     Document Type: Article

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